Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Abstract Background We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. Methods We performed whole exome sequencing to identify the causative vari...

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Bibliographic Details
Main Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Medical Genetics
Subjects:
Neutropenia
Congenital neutropenia
Leukemia predisposition
Polygenic inheritance
Hearing loss
Online Access:http://link.springer.com/article/10.1186/s12881-020-0971-z

Internet

http://link.springer.com/article/10.1186/s12881-020-0971-z

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